Results 111 to 117 of about 944 (117)

Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy

Human Mutation, 2004
Leonarda Ianzano, Edwin J Young, Stephen W Scherer   +2 more
exaly  

Two novel mutations in the EPM2A gene in a Korean patient with Lafora's progressive myoclonus epilepsy

Journal of Human Genetics, 2003
Chang-Seok Ki, Seung Bong Hong, Sun-Young Kong   +2 more
exaly  

Gene therapy for Lafora disease in the Epm2a mouse model

Molecular Therapy
Luis Zafra-Puerta, Nerea Iglesias-Cabeza, JOSÉ M Serratosa   +2 more
exaly  

Lafora progressive myoclonus epilepsy: A meta-analysis of reported mutations in the first decade following the discovery of theEPM2AandNHLRC1genes

Human Mutation, 2009
Subramaniam Ganesh
exaly  

A novel nonsense mutation of the EPM2A gene in Northwest Greece causing myoclonic epilepsy

Seizure: the Journal of the British Epilepsy Association, 2013
Dimitrios Chatzistefanidis, Ioannis Georgiou, Athanassios P Kyritsis   +2 more
exaly  

Identification of a novel protein interacting with laforin, the epm2a progressive myoclonus epilepsy gene product

Genomics, 2003
Leonarda Ianzano, Stephen W Scherer
exaly  

Protein-Protein Interaction Network and Clustering Analysis of EPM2A: Insights into Glycogen Metabolism and Disease Associations

Clinical & Translational Metabolism
Sampara Vasishta
exaly